View source for SLC6A8

{{Infobox_gene}}
'''Sodium- and chloride-dependent creatine transporter 1''' is a [[protein]] that in humans is encoded by the ''SLC6A8'' [[gene]].<ref name="pmid7774949">{{cite journal | vauthors = Gregor P, Nash SR, Caron MG, Seldin MF, Warren ST | title = Assignment of the creatine transporter gene (SLC6A8) to human chromosome Xq28 telomeric to G6PD | journal = Genomics | volume = 25 | issue = 1 | pages = 332–3 |date=Jul 1995 | pmid = 7774949 | pmc =  | doi =10.1016/0888-7543(95)80155-F  | url = https://zenodo.org/record/1258611 | format = Submitted manuscript }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: SLC6A8 solute carrier family 6 (neurotransmitter transporter, creatine), member 8| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6535| accessdate = }}</ref>
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==See also==
* [[Sodium:neurotransmitter symporter]]
* [[Solute carrier family]]

==References==
{{reflist}}

==External links==
*[https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=creatine  GeneReviews/NCBI/NIH/UW entry on Creatine Deficiency Syndromes]

==Further reading==
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
*{{cite journal  | vauthors=Barnwell LF, Chaudhuri G, Townsel JG |title=Cloning and sequencing of a cDNA encoding a novel member of the human brain GABA/noradrenaline neurotransmitter transporter family |journal=Gene |volume=159 |issue= 2 |pages= 287–8 |year= 1995 |pmid= 7622069 |doi=10.1016/0378-1119(95)00104-E  }}
*{{cite journal   |vauthors=Sora I, Richman J, Santoro G, etal |title=The cloning and expression of a human creatine transporter |journal=Biochem. Biophys. Res. Commun. |volume=204 |issue= 1 |pages= 419–27 |year= 1994 |pmid= 7945388 |doi=10.1006/bbrc.1994.2475  }}
*{{cite journal   |vauthors=Nash SR, Giros B, Kingsmore SF, etal |title=Cloning, pharmacological characterization, and genomic localization of the human creatine transporter |journal=Recept. Channels |volume=2 |issue= 2 |pages= 165–74 |year= 1994 |pmid= 7953292 |doi=  }}
*{{cite journal   |vauthors=Iyer GS, Krahe R, Goodwin LA, etal |title=Identification of a testis-expressed creatine transporter gene at 16p11.2 and confirmation of the X-linked locus to Xq28 |journal=Genomics |volume=34 |issue= 1 |pages= 143–6 |year= 1996 |pmid= 8661037 |doi= 10.1006/geno.1996.0254 }}
*{{cite journal   |vauthors=Sandoval N, Bauer D, Brenner V, etal |title=The genomic organization of a human creatine transporter (CRTR) gene located in Xq28 |journal=Genomics |volume=35 |issue= 2 |pages= 383–5 |year= 1996 |pmid= 8661155 |doi= 10.1006/geno.1996.0373 }}
*{{cite journal  | vauthors=Grunau C, Hindermann W, Rosenthal A |title=Large-scale methylation analysis of human genomic DNA reveals tissue-specific differences between the methylation profiles of genes and pseudogenes |journal=Hum. Mol. Genet. |volume=9 |issue= 18 |pages= 2651–63 |year= 2000 |pmid= 11063724 |doi=10.1093/hmg/9.18.2651  }}
*{{cite journal   |vauthors=Salomons GS, van Dooren SJ, Verhoeven NM, etal |title=X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome |journal=Am. J. Hum. Genet. |volume=68 |issue= 6 |pages= 1497–500 |year= 2001 |pmid= 11326334 |doi=10.1086/320595  | pmc=1226136  }}
*{{cite journal   |vauthors=Hahn KA, Salomons GS, Tackels-Horne D, etal |title=X-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28 |journal=Am. J. Hum. Genet. |volume=70 |issue= 5 |pages= 1349–56 |year= 2002 |pmid= 11898126 |doi=10.1086/340092  | pmc=447610  }}
*{{cite journal   |vauthors=Bizzi A, Bugiani M, Salomons GS, etal |title=X-linked creatine deficiency syndrome: a novel mutation in creatine transporter gene SLC6A8 |journal=Ann. Neurol. |volume=52 |issue= 2 |pages= 227–31 |year= 2002 |pmid= 12210795 |doi= 10.1002/ana.10246 }}
*{{cite journal  | vauthors=Wang W, Shang LH, Jacobs DO |title=Complement regulatory protein CD59 involves c-SRC related tyrosine phosphorylation of the creatine transporter in skeletal muscle during sepsis |journal=Surgery |volume=132 |issue= 2 |pages= 334–40 |year= 2002 |pmid= 12219031 |doi=10.1067/msy.2002.125312  }}
*{{cite journal   |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899  | pmc=139241 }}
*{{cite journal   |vauthors=Rosenberg EH, Almeida LS, Kleefstra T, etal |title=High prevalence of SLC6A8 deficiency in X-linked mental retardation |journal=Am. J. Hum. Genet. |volume=75 |issue= 1 |pages= 97–105 |year= 2004 |pmid= 15154114 |doi= 10.1086/422102  | pmc=1182013 }}
*{{cite journal   |vauthors=Gerhard DS, Wagner L, Feingold EA, etal |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC) |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504  | pmc=528928 }}
*{{cite journal  | vauthors=Shojaiefard M, Christie DL, Lang F |title=Stimulation of the creatine transporter SLC6A8 by the protein kinases SGK1 and SGK3 |journal=Biochem. Biophys. Res. Commun. |volume=334 |issue= 3 |pages= 742–6 |year= 2006 |pmid= 16036218 |doi= 10.1016/j.bbrc.2005.06.164 }}
*{{cite journal  | vauthors=Dodd JR, Christie DL |title=Substituted cysteine accessibility of the third transmembrane domain of the creatine transporter: defining a transport pathway |journal=J. Biol. Chem. |volume=280 |issue= 38 |pages= 32649–54 |year= 2005 |pmid= 16049011 |doi= 10.1074/jbc.M506723200 }}
*{{cite journal   |vauthors=Schiaffino MC, Bellini C, Costabello L, etal |title=X-linked creatine transporter deficiency: clinical description of a patient with a novel SLC6A8 gene mutation |journal=Neurogenetics |volume=6 |issue= 3 |pages= 165–8 |year= 2006 |pmid= 16086185 |doi= 10.1007/s10048-005-0002-4 }}
*{{cite journal   |vauthors=Clark AJ, Rosenberg EH, Almeida LS, etal |title=X-linked creatine transporter (SLC6A8) mutations in about 1% of males with mental retardation of unknown etiology |journal=Hum. Genet. |volume=119 |issue= 6 |pages= 604–10 |year= 2006 |pmid= 16738945 |doi= 10.1007/s00439-006-0162-9 }}
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{{NLM content}}
{{Membrane transport proteins}}

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{{DEFAULTSORT:Slc6a8}}
[[Category:Solute carrier family]]


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